Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs7958904 0.724 0.200 12 53963768 non coding transcript exon variant C/A;G snv 15